{"id":108322,"date":"2025-07-30T12:16:35","date_gmt":"2025-07-30T03:16:35","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=108322"},"modified":"2025-07-30T12:17:54","modified_gmt":"2025-07-30T03:17:54","slug":"neurodevelopmental-disorders-genetic-testing","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/","title":{"rendered":"\u907a\u4f1d\u5b50\u89e3\u6790\u3092\u7528\u3044\u305f\u77e5\u7684\u969c\u5bb3\u30fb\u795e\u7d4c\u767a\u9054\u75c7\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\uff1a\u8a3a\u65ad\u6280\u8853\u3068\u5fdc\u7528\u306e\u73fe\u6cc1\u304b\u3089\u8003\u3048\u308b"},"content":{"rendered":"\n<p><\/p>\n\n\n\n<div style=\"border: 4px solid #80c1ea; background-color: #f8fcff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.04);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" 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ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/#%E9%81%BA%E4%BC%9D%E7%9A%84%E7%9F%A5%E8%A6%8B%EF%BD%9CGenetic_Findings\" >\u907a\u4f1d\u7684\u77e5\u898b\uff5cGenetic Findings<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/#%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%AA%E6%84%8F%E7%BE%A9%EF%BD%9CFunctional_Implications\" >\u81e8\u5e8a\u7684\u306a\u610f\u7fa9\uff5cFunctional Implications<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/#%E3%82%A8%E3%83%94%E3%82%B8%E3%82%A7%E3%83%8D%E3%83%86%E3%82%A3%E3%82%AF%E3%82%B9%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E8%AA%BF%E7%AF%80%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF%EF%BD%9CEpigenetic_and_Regulatory_Mechanisms\" >\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u3068\u907a\u4f1d\u5b50\u8abf\u7bc0\u306e\u3057\u304f\u307f\uff5cEpigenetic and Regulatory Mechanisms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/#%E6%A4%9C%E6%9F%BB%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E5%9F%BA%E6%BA%96%EF%BD%9CTesting_and_Diagnostic_Criteria\" >\u691c\u67fb\u3068\u8a3a\u65ad\u306e\u57fa\u6e96\uff5cTesting and Diagnostic Criteria<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/#%E9%A1%9E%E4%BC%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E5%85%B1%E9%80%9A%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BD%9CComparative_Syndromes_and_Shared_Mechanisms\" >\u985e\u4f3c\u75c7\u5019\u7fa4\u3068\u5171\u901a\u30e1\u30ab\u30cb\u30ba\u30e0\uff5cComparative Syndromes and Shared Mechanisms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/#%E5%85%A8%E4%BD%93%E7%9A%84%E3%81%AA%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91%E3%81%A8%E4%BB%8A%E5%BE%8C%E3%81%AE%E5%B1%95%E6%9C%9B%EF%BD%9CTarget_Topic_Context\" >\u5168\u4f53\u7684\u306a\u4f4d\u7f6e\u3065\u3051\u3068\u4eca\u5f8c\u306e\u5c55\u671b\uff5cTarget Topic Context<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/#%E3%81%BE%E3%81%A8%E3%82%81%E3%81%A8%E5%B0%8F%E3%81%95%E3%81%AA%E8%A6%8B%E8%A7%A3%EF%BD%9CCurrent_Conclusions\" >\u307e\u3068\u3081\u3068\u5c0f\u3055\u306a\u898b\u89e3\uff5cCurrent Conclusions<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/neurodevelopmental-disorders-genetic-testing\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #2a79b8; text-align: left; border-bottom: 2px solid #a6cbdc; padding-bottom: 0.25rem;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\n    \u3084\u3055\u3057\u3044\u307e\u3068\u3081\n  <span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"font-size: 1rem; color: #333;\">\n    \u795e\u7d4c\u767a\u9054\u75c7\uff08Neurodevelopmental Disorders\uff1aNDDs\uff09\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3066\u3093\u304b\u3093\u3001\u5168\u822c\u7684\u767a\u9054\u9045\u5ef6\u306a\u3069\u3092\u542b\u307f\u3001\u907a\u4f1d\u7684\u80cc\u666f\u306e\u89e3\u660e\u304c\u9032\u3093\u3067\u3044\u308b\u5206\u91ce\u3067\u3059\u3002\u8fd1\u5e74\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3084\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u3001\u3055\u3089\u306b\u306f\u30ed\u30f3\u30b0\u30ea\u30fc\u30c9\u578b\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u3068\u3044\u3063\u305f\u7db2\u7f85\u7684\u624b\u6cd5\u304c\u8a3a\u65ad\u306e\u7b2c\u4e00\u9078\u629e\u80a2\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\n  <\/p>\n  <p style=\"font-size: 1rem; color: #333;\">\n    \u672c\u7a3f\u3067\u306f\u3001NDDs\u306b\u304a\u3051\u308b\u4e3b\u8981\u306a\u5909\u7570\u30bf\u30a4\u30d7\uff08SNV\u3001CNV\u3001\u69cb\u9020\u7570\u5e38\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3001\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u95a2\u9023\u5909\u5316\u306a\u3069\uff09\u3068\u3001\u305d\u308c\u3089\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u6280\u8853\u7684\u9032\u5c55\u3001\u306a\u3089\u3073\u306b\u81e8\u5e8a\u5fdc\u7528\u306e\u52d5\u5411\u306b\u3064\u3044\u3066\u6982\u89b3\u3057\u307e\u3059\u3002\u8a3a\u65ad\u306e\u6709\u7528\u6027\u3084\u9650\u754c\u3001\u4eca\u5f8c\u306e\u5c55\u671b\u306b\u3064\u3044\u3066\u3082\u89e6\u308c\u3066\u3044\u307e\u3059\u3002\n  <\/p>\n  <p style=\"font-size: 1rem; color: #333;\">\n    \u672c\u5185\u5bb9\u306f\u3001\u73fe\u6642\u70b9\u3067\u306e\u533b\u5b66\u7684\u77e5\u898b\u306b\u57fa\u3065\u304f\u3082\u306e\u3067\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u75c7\u4f8b\u306b\u5f53\u3066\u306f\u307e\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u500b\u5225\u306e\u5224\u65ad\u306b\u306f\u3001\u907a\u4f1d\u5c02\u9580\u533b\u3084\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002\n  <\/p>\n<\/div>\n\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BD%9COverview\"><\/span><strong>\u6982\u8981\uff5cOverview<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08\u3061\u3066\u304d\u3057\u3087\u3046\u304c\u3044\u3001Intellectual Disability\uff1aID\uff09\u3001\u5168\u822c\u7684\u767a\u9054\u9045\u5ef6\uff08\u305c\u3093\u3071\u3093\u3066\u304d\u306f\u3063\u305f\u3064\u3061\u3048\u3093\u3001Global Developmental Delay\uff1aGDD\uff09\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08\u3058\u3078\u3044\u3059\u307a\u304f\u3068\u3089\u3080\u3057\u3087\u3046\u3001Autism Spectrum Disorder\uff1aASD\uff09\u3001\u3066\u3093\u304b\u3093\uff08Epilepsy\uff09\u306a\u3069\u306b\u4ee3\u8868\u3055\u308c\u308b\u300c\u795e\u7d4c\u767a\u9054\u75c7\uff08\u3057\u3093\u3051\u3044\u306f\u3063\u305f\u3064\u3057\u3087\u3046\u3001Neurodevelopmental Disorders\uff1aNDDs\uff09\u300d\u306f\u3001\u3055\u307e\u3056\u307e\u306a\u907a\u4f1d\u7684\u80cc\u666f\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u305d\u306e\u69cb\u9020\u306f\u975e\u5e38\u306b\u8907\u96d1\u3067\u591a\u69d8\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u306e\u539f\u56e0\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u306b\u306f\u3001\u5e83\u3044\u7bc4\u56f2\u306e\u907a\u4f1d\u5b50\u3092\u4e00\u5ea6\u306b\u8abf\u3079\u308b\u5305\u62ec\u7684\u306a\u691c\u67fb\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3067\u306f\u3001\u8907\u6570\u306e\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u30ec\u30d3\u30e5\u30fc\u7814\u7a76\u3084\u7d71\u5408\u7684\u306a\u89e3\u6790\uff08\u30e1\u30bf\u30a2\u30ca\u30ea\u30b7\u30b9\uff09\u306b\u3088\u3063\u3066\u3001\u5f93\u6765\u4f7f\u7528\u3055\u308c\u3066\u304d\u305f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\uff08\u30af\u30ed\u30e2\u30bd\u30fc\u30de\u30eb\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3001Chromosomal Microarray\uff1aCMA\uff09\u3084\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u3060\u3051\u3092\u8abf\u3079\u308b\u30d1\u30cd\u30eb\u691c\u67fb\u304b\u3089\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08\u30a8\u30af\u30bd\u30fc\u30e0\u30fb\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u3001Exome Sequencing\uff1aES\uff09\u304a\u3088\u3073\u5168\u30b2\u30ce\u30e0\u89e3\u6790\uff08\u30b8\u30fc\u30ce\u30fc\u30e0\u30fb\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u3001Genome Sequencing\uff1aGS\uff09\u3068\u3044\u3063\u305f\u7db2\u7f85\u7684\uff08\u3082\u3046\u3089\u3066\u304d\uff09\u306a\u624b\u6cd5\u3078\u3068\u79fb\u884c\u3059\u308b\u52d5\u304d\u304c\u52a0\u901f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u81e8\u5e8a\u73fe\u5834\u3067\u306e\u6709\u7528\u6027\u3084\u8cbb\u7528\u5bfe\u52b9\u679c\u3001\u8a3a\u65ad\u306e\u52b9\u7387\u6027\u3068\u3044\u3046\u89b3\u70b9\u304b\u3089\u3082\u3001\u3053\u3046\u3057\u305f\u65b0\u3057\u3044\u691c\u67fb\u65b9\u6cd5\u306e\u6709\u5229\u3055\u304c\u793a\u3055\u308c\u3066\u304a\u308a\u3001\u7b2c\u4e00\u9078\u629e\u306e\u691c\u67fb\u3068\u3057\u3066\u63a8\u5968\u3055\u308c\u308b\u3053\u3068\u304c\u5897\u3048\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306e\u691c\u67fb\u3092\u5c0e\u5165\u3059\u308b\u305f\u3081\u306b\u306f\u9ad8\u5ea6\u306a\u6280\u8853\u3084\u4f53\u5236\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u533b\u7642\u6a5f\u95a2\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u5b9f\u65bd\u53ef\u80fd\u304b\u3069\u3046\u304b\u304c\u7570\u306a\u308b\u3068\u3044\u3046\u73fe\u5b9f\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E7%9A%84%E7%9F%A5%E8%A6%8B%EF%BD%9CGenetic_Findings\"><\/span><strong>\u907a\u4f1d\u7684\u77e5\u898b\uff5cGenetic Findings<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u77e5\u898b\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u767a\u9054\u75c7\u306e\u539f\u56e0\u3092\u7a81\u304d\u6b62\u3081\u308b\u305f\u3081\u306e\u7b2c\u4e00\u9078\u629e\u306e\u691c\u67fb\u3068\u3057\u3066\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u304c\u975e\u5e38\u306b\u6709\u52b9\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u65b9\u6cd5\u3067\u306f\u3001\u30d2\u30c8\u306e\u907a\u4f1d\u60c5\u5831\u306e\u3046\u3061\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u3064\u304f\u308b\u300c\u8a2d\u8a08\u56f3\u300d\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\u9818\u57df\uff09\u3092\u5e83\u304f\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u7387\u3068\u3044\u3046\u89b3\u70b9\u304b\u3089\u898b\u308b\u3068\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306b\u3088\u3063\u3066\u304a\u304a\u3088\u305d25\uff5e36%\u306e\u5272\u5408\u3067\u8a3a\u65ad\u306b\u3064\u306a\u304c\u308b\u7570\u5e38\u304c\u767a\u898b\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u306f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306b\u3088\u308b12\uff5e20%\u3068\u3044\u3046\u6570\u5b57\u3088\u308a\u3082\u9ad8\u3044\u7d50\u679c\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u306f\u3063\u304d\u308a\u3068\u3057\u305f\u75c7\u72b6\u306e\u539f\u56e0\u304c\u308f\u304b\u3089\u306a\u3044\u5834\u5408\u306b\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u304c\u6700\u3082\u9069\u3057\u305f\u521d\u671f\u691c\u67fb\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u5e83\u7bc4\u56f2\u306a\u60c5\u5831\u3092\u5f97\u3089\u308c\u308b\u65b9\u6cd5\u3068\u3057\u3066\u3001\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3088\u308a\u3082\u5e83\u304f\u3001\u907a\u4f1d\u5b50\u306e\u8abf\u7bc0\u9818\u57df\u3084\u30a4\u30f3\u30c8\u30ed\u30f3\u306a\u3069\u3082\u542b\u3081\u3066\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u5bfe\u8c61\u306b\u3059\u308b\u691c\u67fb\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u69cb\u9020\u5909\u7570\uff08\u30b9\u30c8\u30e9\u30af\u30c1\u30e5\u30e9\u30eb\u30fb\u30d0\u30ea\u30a2\u30f3\u30c8\u3001Structural Variants\uff1aSVs\uff09\u3001\u53cd\u5fa9\u914d\u5217\u306e\u7570\u5e38\uff08\u30b7\u30e7\u30fc\u30c8\u30fb\u30bf\u30f3\u30c7\u30e0\u30fb\u30ea\u30d4\u30fc\u30c8\u3001Short Tandem Repeat\uff1aSTR\uff09\u3001\u305d\u3057\u3066\u975e\u30b3\u30fc\u30c9\u9818\u57df\u3084\u30a4\u30f3\u30c8\u30ed\u30f3\u6df1\u90e8\u306e\u5909\u7570\u306a\u3069\u3001\u3053\u308c\u307e\u3067\u691c\u51fa\u304c\u96e3\u3057\u304b\u3063\u305f\u7570\u5e38\u3082\u78ba\u8a8d\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u30ed\u30f3\u30b0\u30ea\u30fc\u30c9\u578b\u5168\u30b2\u30ce\u30e0\u89e3\u6790\uff08\u30ed\u30f3\u30b0\u30fb\u30ea\u30fc\u30c9\u30fb\u30b8\u30fc\u30ce\u30fc\u30e0\u30fb\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u3001Long-read Genome Sequencing\uff09\u306f\u3001\u5f93\u6765\u306e\u77ed\u3044\u914d\u5217\u3092\u8aad\u3080\u6280\u8853\u3088\u308a\u3082\u3055\u3089\u306b\u8a73\u7d30\u306a\u60c5\u5831\u3092\u8aad\u307f\u53d6\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u305f\u3068\u3048\u3070\u30e2\u30d0\u30a4\u30eb\u30a8\u30ec\u30e1\u30f3\u30c8\u633f\u5165\uff08\u30e2\u30d0\u30a4\u30eb\u30fb\u30a8\u30ec\u30e1\u30f3\u30c8\u30fb\u30a4\u30f3\u30b5\u30fc\u30b7\u30e7\u30f3\u3001Mobile Element Insertion\uff1aMEI\uff09\u3001\u30d0\u30e9\u30f3\u30b9\u578b\u67d3\u8272\u4f53\u518d\u7de8\u6210\u3001\u5927\u898f\u6a21\u306a\u7e70\u308a\u8fd4\u3057\u914d\u5217\u306e\u7570\u5e38\u306a\u3069\u3082\u6b63\u78ba\u306b\u691c\u51fa\u3067\u304d\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u75c7\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u3001\u7279\u306b\u91cd\u8981\u3068\u3055\u308c\u308b\u907a\u4f1d\u7684\u306a\u7570\u5e38\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7a2e\u985e\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<p>\uff11\u3000\u3000\u4e00\u5869\u57fa\u5909\u7570\uff08\u30b7\u30f3\u30b0\u30eb\u30fb\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u30fb\u30d0\u30ea\u30a2\u30f3\u30c8\u3001Single Nucleotide Variant\uff1aSNV\uff09\u3084\u5c0f\u3055\u306a\u633f\u5165\u30fb\u6b20\u5931\uff08\u30a4\u30f3\u30c7\u30eb\u3001INDELs\uff09<br>\uff12\u3000\u3000\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\uff08\u30b3\u30d4\u30fc\u30fb\u30ca\u30f3\u30d0\u30fc\u30fb\u30d0\u30ea\u30a2\u30f3\u30c8\u3001Copy Number Variant\uff1aCNV\uff09\u2014 \u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3084\u91cd\u8907<br>\uff13\u3000\u3000\u67d3\u8272\u4f53\u69cb\u9020\u306e\u7570\u5e38\uff08\u9006\u4f4d\u3084\u8ee2\u5ea7\u306a\u3069\uff09<br>\uff14\u3000\u3000\u4e09\u5869\u57fa\u306e\u7e70\u308a\u8fd4\u3057\u914d\u5217\u306e\u62e1\u5927\uff08\u305f\u3068\u3048\u3070FMR1\u907a\u4f1d\u5b50\u306b\u898b\u3089\u308c\u308b\u7570\u5e38\uff09<br>\uff15\u3000\u3000\u30e2\u30d0\u30a4\u30eb\u30a8\u30ec\u30e1\u30f3\u30c8\uff08Alu\u3084L1\u3068\u3044\u3063\u305f\u914d\u5217\uff09\u304c\u633f\u5165\u3055\u308c\u308b\u5909\u7570<br>\uff16\u3000\u3000\u30a4\u30f3\u30c8\u30ed\u30f3\u306e\u5965\u6df1\u304f\u3084\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u3089\u306a\u3044\u9818\u57df\uff08\u975e\u30b3\u30fc\u30c9\u9818\u57df\uff09\u306b\u8d77\u3053\u308b\u5909\u7570<\/p>\n\n\n\n<p>\u3053\u3046\u3057\u305f\u7570\u5e38\u306e\u306a\u304b\u306b\u306f\u3001\u901a\u5e38\u306e\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u3082\u306e\u3082\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u7279\u306b\u30d0\u30e9\u30f3\u30b9\u578b\u306e\u67d3\u8272\u4f53\u518d\u7de8\u6210\u3001\u4f53\u306e\u4e00\u90e8\u306e\u7d30\u80de\u3067\u306e\u307f\u907a\u4f1d\u60c5\u5831\u304c\u7570\u306a\u308b\u300c\u4f4e\u30ec\u30d9\u30eb\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\uff08mosaicism\uff09\u300d\u3001\u305d\u3057\u3066DNA\u306e\u30e1\u30c1\u30eb\u5316\u7570\u5e38\u306a\u3069\u306f\u3001\u3088\u308a\u5c02\u9580\u7684\u306a\u6280\u8853\u3092\u7528\u3044\u305f\u691c\u51fa\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u795e\u7d4c\u767a\u9054\u75c7\u306e\u591a\u304f\u3067\u306f\u3001\u3054\u304f\u307e\u308c\u3067\u5f71\u97ff\u306e\u5927\u304d\u3044\u5909\u7570\uff08ultra-rare, highly penetrant variants\uff09\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u7279\u306b\u300c\u30b3\u30d4\u30fc\u6570\u306b\u654f\u611f\u306a\u907a\u4f1d\u5b50\uff08dosage-sensitive genes\uff09\u300d\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u5909\u7570\u306f\u3001\u65b0\u3057\u304f\u751f\u3058\u305f\u5909\u7570\uff08de novo\uff09\u3068\u3057\u3066\u73fe\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3057\u3001\u3054\u5bb6\u65cf\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u540c\u3058\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u5fc5\u305a\u3057\u3082\u75c7\u72b6\u304c\u51fa\u308b\u3068\u306f\u9650\u3089\u306a\u3044\u305f\u3081\u3001\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\u6027\uff08incomplete penetrance\uff09\u300d\u3084\u300c\u8868\u73fe\u578b\u306e\u3070\u3089\u3064\u304d\uff08variable expressivity\uff09\u300d\u3068\u3044\u3046\u6982\u5ff5\u3082\u3001\u8a3a\u65ad\u3084\u8aac\u660e\u306b\u306f\u3068\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u75c7\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u591a\u304f\u306f\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3057\u305f\u308a\u3001DNA\u306e\u7acb\u4f53\u69cb\u9020\u3092\u5909\u3048\u305f\u308a\u3001\u795e\u7d4c\u7d30\u80de\u540c\u58eb\u306e\u3064\u306a\u304c\u308a\u3092\u4f5c\u3063\u305f\u308a\u3059\u308b\u3088\u3046\u306a\u3001\u8133\u306e\u767a\u9054\u306b\u91cd\u8981\u306a\u6a5f\u80fd\u3092\u62c5\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u4ee3\u8868\u7684\u306a\u3082\u306e\u3068\u3057\u3066\u306f\u3001CHD8\u3001MECP2\u3001DNMT3A\u3001SCN2A\u3001EHMT1\u3001SETDB1\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%AA%E6%84%8F%E7%BE%A9%EF%BD%9CFunctional_Implications\"><\/span><strong>\u81e8\u5e8a\u7684\u306a\u610f\u7fa9\uff5cFunctional Implications<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u7684\u306a\u8a3a\u65ad\u304c\u5f97\u3089\u308c\u308b\u3053\u3068\u306b\u306f\u3001\u533b\u7642\u3084\u3054\u5bb6\u65cf\u306e\u751f\u6d3b\u306b\u3068\u3063\u3066\u3001\u3044\u304f\u3064\u3082\u306e\u91cd\u8981\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u3001\u8a3a\u65ad\u304c\u660e\u3089\u304b\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u5c06\u6765\u7684\u306b\u8d77\u3053\u308a\u3046\u308b\u5408\u4f75\u75c7\u3092\u4e88\u6e2c\u3057\u305f\u308a\u3001\u9069\u5207\u306a\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u306e\u7d4c\u904e\u89b3\u5bdf\u3084\u5c02\u9580\u7684\u306a\u533b\u7642\u5bfe\u5fdc\u3092\u884c\u3046\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u3001\u305d\u306e\u907a\u4f1d\u5b50\u306b\u95a2\u4fc2\u3059\u308b\u81d3\u5668\u3084\u6a5f\u80fd\u306b\u6ce8\u610f\u3092\u6255\u3044\u306a\u304c\u3089\u3001\u533b\u7642\u7684\u306a\u898b\u901a\u3057\uff08\u4e88\u5f8c\uff09\u3084\u7ba1\u7406\u8a08\u753b\u3092\u7acb\u3066\u308b\u3053\u3068\u304c\u53ef\u80fd\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u65b9\u91dd\u3092\u9078\u629e\u3059\u308b\u3046\u3048\u3067\u3082\u3001\u907a\u4f1d\u7684\u60c5\u5831\u306f\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001mTOR\u963b\u5bb3\u85ac\u3084\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u906e\u65ad\u85ac\u306e\u3088\u3046\u306b\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u5bfe\u3057\u3066\u52b9\u679c\u304c\u3042\u308b\u3068\u3055\u308c\u308b\u6cbb\u7642\u6cd5\u304c\u9078\u629e\u80a2\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u4eca\u5f8c\u306e\u3054\u5bb6\u65cf\u306e\u598a\u5a20\u3084\u51fa\u7523\u306b\u95a2\u3059\u308b\u8a08\u753b\uff08\u30ea\u30d7\u30ed\u30c0\u30af\u30c6\u30a3\u30d6\u30fb\u30d7\u30e9\u30f3\u30cb\u30f3\u30b0\uff09\u3084\u3001\u3054\u5144\u5f1f\u30fb\u89aa\u621a\u306b\u5bfe\u3059\u308b\u907a\u4f1d\u7684\u306a\u691c\u67fb\uff08\u30ab\u30b9\u30b1\u30fc\u30c9\u691c\u67fb\uff09\u3092\u691c\u8a0e\u3059\u308b\u969b\u306b\u3082\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306e\u6709\u7121\u304c\u91cd\u8981\u306a\u5224\u65ad\u6750\u6599\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e0d\u8981\u306a\u691c\u67fb\u3092\u6e1b\u3089\u3059\u3053\u3068\u304c\u3067\u304d\u308b\u3068\u3044\u3046\u70b9\u3067\u3082\u3001\u8a3a\u65ad\u304c\u3082\u305f\u3089\u3059\u6069\u6075\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u539f\u56e0\u4e0d\u660e\u306e\u307e\u307e\u7d9a\u304f\u691c\u67fb\u3084\u53d7\u8a3a\u306e\u300c\u63a2\u7d22\u306e\u65c5\uff08diagnostic odyssey\uff09\u300d\u3092\u77ed\u7e2e\u3067\u304d\u308b\u3053\u3068\u3067\u3001\u3054\u5bb6\u65cf\u306e\u5fc3\u8eab\u306e\u3054\u8ca0\u62c5\u3082\u8efd\u6e1b\u3055\u308c\u308b\u3068\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u7279\u5b9a\u306e\u8a3a\u65ad\u540d\u304c\u660e\u3089\u304b\u306b\u306a\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u3001\u75c7\u72b6\u306b\u7279\u5316\u3057\u305f\u652f\u63f4\u5236\u5ea6\u3084\u6559\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\u3001\u3042\u308b\u3044\u306f\u81e8\u5e8a\u8a66\u9a13\u3084\u6cbb\u7642\u7814\u7a76\u3078\u306e\u53c2\u52a0\u3068\u3044\u3063\u305f\u3001\u65b0\u305f\u306a\u9053\u304c\u958b\u304b\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u305f\u3068\u3057\u3066\u3082\u3001\u5fc5\u305a\u3057\u3082\u3059\u3079\u3066\u306e\u65b9\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u3046\u3057\u305f\u73fe\u8c61\u306f\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\u6027\u300d\u3068\u547c\u3070\u308c\u3001\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u5b9f\u969b\u306b\u306f\u75c7\u72b6\u304c\u73fe\u308c\u306a\u3044\u3001\u307e\u305f\u306f\u975e\u5e38\u306b\u8efd\u5ea6\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306e\u540c\u3058\u4f4d\u7f6e\u306b\u5909\u7570\u304c\u3042\u3063\u3066\u3082\u3001\u305d\u306e\u75c7\u72b6\u306e\u51fa\u65b9\u3084\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u3053\u3068\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u300c\u8868\u73fe\u578b\u306e\u3070\u3089\u3064\u304d\uff08variable expressivity\uff09\u300d\u3068\u547c\u3070\u308c\u3001\u81e8\u5e8a\u533b\u304c\u75c7\u72b6\u306e\u8aac\u660e\u3084\u898b\u901a\u3057\u3092\u304a\u4f1d\u3048\u3059\u308b\u969b\u306b\u5927\u5207\u306a\u8003\u616e\u70b9\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3046\u3057\u305f\u9055\u3044\u306f\u3001\u305d\u306e\u65b9\u306e\u3082\u3068\u3082\u3068\u306e\u907a\u4f1d\u7684\u4f53\u8cea\uff08\u30dd\u30ea\u30b8\u30a7\u30cb\u30c3\u30af\u30fb\u30ea\u30b9\u30af\uff09\u3084\u3001\u74b0\u5883\u304b\u3089\u306e\u5f71\u97ff\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u4f53\u5185\u306e\u4e00\u90e8\u306e\u7d30\u80de\u3060\u3051\u306b\u898b\u3089\u308c\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u73fe\u8c61\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u8981\u56e0\u304c\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A8%E3%83%94%E3%82%B8%E3%82%A7%E3%83%8D%E3%83%86%E3%82%A3%E3%82%AF%E3%82%B9%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E8%AA%BF%E7%AF%80%E3%81%AE%E3%81%97%E3%81%8F%E3%81%BF%EF%BD%9CEpigenetic_and_Regulatory_Mechanisms\"><\/span><strong>\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u3068\u907a\u4f1d\u5b50\u8abf\u7bc0\u306e\u3057\u304f\u307f\uff5cEpigenetic and Regulatory Mechanisms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u75c7\u306e\u4e2d\u306b\u306f\u3001\u300c\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u3057\u304f\u307f\uff08epigenetic regulation\uff09\u300d\u306e\u4e71\u308c\u304c\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u3082\u306e\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u3068\u306f\u3001DNA\u306e\u914d\u5217\u305d\u306e\u3082\u306e\u3092\u5909\u3048\u305a\u306b\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u65b9\u3092\u8abf\u7bc0\u3059\u308b\u3057\u304f\u307f\u306e\u3053\u3068\u3092\u6307\u3057\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001DNA\u306e\u30e1\u30c1\u30eb\u5316\uff08DNA methylation\uff09\u3001\u30d2\u30b9\u30c8\u30f3\u306e\u4fee\u98fe\uff08histone modification\uff09\u3001\u304a\u3088\u3073\u30ce\u30f3\u30b3\u30fc\u30c7\u30a3\u30f3\u30b0RNA\u306e\u8abf\u6574\uff08non-coding RNA regulation\uff09\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u8abf\u7bc0\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3068\u3001\u795e\u7d4c\u7d30\u80de\u306e\u6210\u9577\u3084\u79fb\u52d5\u3001\u307e\u305f\u30b7\u30ca\u30d7\u30b9\u3068\u547c\u3070\u308c\u308b\u795e\u7d4c\u9593\u306e\u3064\u306a\u304c\u308a\u306e\u5f62\u6210\u3001\u305d\u3057\u3066\u767a\u9054\u671f\u306e\u8133\u306e\u6210\u5c64\u69cb\u9020\u306e\u69cb\u7bc9\u306b\u652f\u969c\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5b9f\u969b\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u4ee3\u8868\u7684\u306a\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u95a2\u9023\u907a\u4f1d\u5b50\uff08\u305f\u3068\u3048\u3070\u3001MECP2\u3001DNMT1\u304a\u3088\u3073DNMT3A\u3001TET\u9175\u7d20\u3001SETDB1\u3001EHMT1\u306a\u3069\uff09\u306f\u3001\u5927\u8133\u76ae\u8cea\u306e\u767a\u9054\u306b\u304a\u3051\u308b\u795e\u7d4c\u7d30\u80de\u306e\u5206\u5316\u3084\u79fb\u52d5\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u53ef\u5851\u6027\uff08\u67d4\u8edf\u6027\uff09\u3001\u3055\u3089\u306b\u306f\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u91cf\u306e\u8abf\u7bc0\u306b\u304a\u3044\u3066\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u3053\u3046\u3057\u305f\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u306a\u5909\u5316\u304c\u3001\u76f4\u63a5\u7684\u306a\u75c5\u6c17\u306e\u539f\u56e0\u3067\u3042\u308b\u306e\u304b\u3001\u305d\u308c\u3068\u3082\u907a\u4f1d\u5b50\u5909\u7570\u306a\u3069\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u305f\u4e8c\u6b21\u7684\u306a\u5909\u5316\u306a\u306e\u304b\u306f\u3001\u73fe\u6642\u70b9\u3067\u306f\u307e\u3060\u660e\u78ba\u306b\u5206\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001\u524d\u81e8\u5e8a\u6bb5\u968e\u306e\u7814\u7a76\u306b\u304a\u3044\u3066\u306f\u3001\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u306b\u4f5c\u7528\u3059\u308b\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001HDAC\u963b\u5bb3\u85ac\uff08\u30d2\u30b9\u30c8\u30f3\u8131\u30a2\u30bb\u30c1\u30eb\u5316\u9175\u7d20\u963b\u5bb3\u85ac\uff09\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30d0\u30eb\u30d7\u30ed\u9178\u30ca\u30c8\u30ea\u30a6\u30e0\u3084\u3001CRISPR\u6280\u8853\u3092\u7528\u3044\u305f\u6a19\u7684\u578b\u30e1\u30c1\u30eb\u5316\u7de8\u96c6\uff08\u305f\u3068\u3048\u3070CRISPR-dCas9 fusion\uff09\u306a\u3069\u304c\u3001\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u3084\u8106\u5f31X\u75c7\u5019\u7fa4\u306a\u3069\u306e\u30e2\u30c7\u30eb\u52d5\u7269\u3067\u6709\u671b\u306a\u7d50\u679c\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3068\u306f\u3044\u3048\u3001\u3053\u3046\u3057\u305f\u6cbb\u7642\u6cd5\u3092\u4eba\u306b\u5fdc\u7528\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u307e\u3060\u614e\u91cd\u306a\u691c\u8a0e\u304c\u5fc5\u8981\u3067\u3059\u3002\u6a19\u7684\u4ee5\u5916\u306e\u90e8\u4f4d\u3078\u306e\u5f71\u97ff\uff08\u30aa\u30d5\u30bf\u30fc\u30b2\u30c3\u30c8\u52b9\u679c\uff09\u3084\u3001\u304c\u3093\u5316\u306e\u30ea\u30b9\u30af\u3068\u3044\u3063\u305f\u5b89\u5168\u6027\u306e\u554f\u984c\u304c\u5b8c\u5168\u306b\u306f\u89e3\u6c7a\u3055\u308c\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u73fe\u6642\u70b9\u3067\u306f\u5b9f\u7528\u5316\u306b\u306f\u81f3\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E5%9F%BA%E6%BA%96%EF%BD%9CTesting_and_Diagnostic_Criteria\"><\/span><strong>\u691c\u67fb\u3068\u8a3a\u65ad\u306e\u57fa\u6e96\uff5cTesting and Diagnostic Criteria<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u75c7\u306b\u95a2\u3057\u3066\u3001\u73fe\u5728\u306e\u533b\u7642\u73fe\u5834\u3067\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u9806\u5e8f\u3067\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u521d\u3081\u306b\u63a8\u5968\u3055\u308c\u3066\u3044\u308b\u306e\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306b\u52a0\u3048\u3066\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08Copy Number Variant\uff1aCNV\uff09\u3092\u540c\u6642\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u308a\u3001\u6700\u3082\u591a\u304f\u306e\u8a3a\u65ad\u7684\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b21\u306b\u884c\u3046\u691c\u67fb\u306b\u3064\u3044\u3066\u306f\u3001\u500b\u3005\u306e\u72b6\u6cc1\u3084\u81e8\u5e8a\u7684\u306a\u5224\u65ad\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u304c\u5229\u7528\u3067\u304d\u306a\u3044\u5834\u5408\u3084\u3001\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u6a5f\u80fd\u304c\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u5834\u5408\u306b\u306f\u3001\u305d\u306e\u4ee3\u66ff\u3068\u3057\u3066\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u304c\u9078\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5168\u822c\u7684\u306a\u767a\u9054\u306e\u9045\u308c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u306a\u3069\u306e\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u65b9\u306b\u306f\u3001FMR1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u300c\u8106\u5f31X\u75c7\u5019\u7fa4\uff08Fragile X syndrome\uff09\u300d\u306e\u691c\u67fb\u304c\u3001\u5e83\u304f\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>\u3055\u3089\u306b\u3001\u60a3\u8005\u3055\u3093\u306e\u75c7\u72b6\u3084\u8eab\u4f53\u6240\u898b\u306b\u3088\u3063\u3066\u306f\u3001DNA\u30e1\u30c1\u30eb\u5316\u306e\u72b6\u614b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3084\u3001\u67d3\u8272\u4f53\u306e\u69cb\u9020\u3092\u89b3\u5bdf\u3059\u308b\u6838\u578b\u5206\u6790\uff08\u30ab\u30ea\u30aa\u30bf\u30a4\u30d4\u30f3\u30b0\uff09\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u306b\u95a2\u3059\u308b\u691c\u67fb\u306a\u3069\u304c\u8ffd\u52a0\u3067\u884c\u308f\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3067\u306f\u3001\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u300c\u4e00\u5ea6\u3067\u5e83\u7bc4\u56f2\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u5305\u62ec\u7684\u306a\u691c\u67fb\u300d\u3068\u3057\u3066\u6ce8\u76ee\u3055\u308c\u3066\u304a\u308a\u3001\u3068\u304f\u306b\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3084\u4ed6\u306e\u691c\u67fb\u3067\u8a3a\u65ad\u304c\u3064\u304b\u306a\u304b\u3063\u305f\u96e3\u89e3\u306a\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001\u3088\u308a\u9ad8\u3044\u7cbe\u5ea6\u3092\u767a\u63ee\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u30ed\u30f3\u30b0\u30ea\u30fc\u30c9\u578b\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\u306f\u3001\u69cb\u9020\u5909\u7570\u3084\u30e2\u30d0\u30a4\u30eb\u30a8\u30ec\u30e1\u30f3\u30c8\u633f\u5165\u3001\u5927\u898f\u6a21\u306a\u7e70\u308a\u8fd4\u3057\u914d\u5217\u306e\u7570\u5e38\u306a\u3069\u3001\u6a19\u6e96\u7684\u306a\u77ed\u9396\u8aad\u307f\u53d6\u308a\uff08short-read\uff09\u3067\u306f\u691c\u51fa\u304c\u96e3\u3057\u3044\u30bf\u30a4\u30d7\u306e\u5909\u7570\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u306e\u306b\u5f79\u7acb\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001\u691c\u67fb\u3092\u91cd\u306d\u3066\u3082\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u30b1\u30fc\u30b9\u306b\u304a\u3044\u3066\u3001\u88dc\u52a9\u7684\u306b\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u8a55\u4fa1\u30fb\u5206\u985e\u3059\u308b\u969b\u306b\u306f\u3001\u30a2\u30e1\u30ea\u30ab\u907a\u4f1d\u5b66\u4f1a\u304a\u3088\u3073\u5206\u5b50\u75c5\u7406\u5b66\u4f1a\u306b\u3088\u308b\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\uff08ACMG\/AMP\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\uff09\u304c\u6a19\u6e96\u7684\u306b\u7528\u3044\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u69cb\u9020\u5909\u7570\u3084\u8abf\u7bc0\u9818\u57df\u306e\u7570\u5e38\u3068\u3044\u3063\u305f\u3001\u8907\u96d1\u3067\u5b9a\u7fa9\u304c\u96e3\u3057\u3044\u30bf\u30a4\u30d7\u306e\u5909\u7570\u306b\u3064\u3044\u3066\u306f\u3001\u3053\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3060\u3051\u3067\u306f\u5224\u65ad\u304c\u3064\u304d\u306b\u304f\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u3044\u3063\u305f\u3093\u8a3a\u65ad\u304c\u3064\u304b\u306a\u304b\u3063\u305f\u30b1\u30fc\u30b9\u3067\u3082\u3001\u533b\u5b66\u3084\u907a\u4f1d\u5b66\u306e\u77e5\u8b58\u306f\u65e5\u3005\u9032\u6b69\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u904e\u53bb\u306e\u691c\u67fb\u7d50\u679c\u3092\u5b9a\u671f\u7684\u306b\u518d\u89e3\u6790\uff08reanalysis\uff09\u3059\u308b\u3053\u3068\u3067\u3001\u65b0\u305f\u306b\u8a3a\u65ad\u306b\u7d50\u3073\u3064\u304f\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4eca\u5f8c\u306e\u898b\u76f4\u3057\u3084\u60c5\u5831\u66f4\u65b0\u306b\u5099\u3048\u3066\u3001\u691c\u67fb\u7d50\u679c\u3092\u5927\u5207\u306b\u4fdd\u7ba1\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%9E%E4%BC%BC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E5%85%B1%E9%80%9A%E3%83%A1%E3%82%AB%E3%83%8B%E3%82%BA%E3%83%A0%EF%BD%9CComparative_Syndromes_and_Shared_Mechanisms\"><\/span><strong>\u985e\u4f3c\u75c7\u5019\u7fa4\u3068\u5171\u901a\u30e1\u30ab\u30cb\u30ba\u30e0\uff5cComparative Syndromes and Shared Mechanisms<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u75c7\u306b\u95a2\u4e0e\u3059\u308b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306f\u3001\u5358\u4e00\u306e\u75c5\u6c17\u3060\u3051\u3067\u306a\u304f\u3001\u8907\u6570\u306e\u75be\u60a3\u3084\u75c7\u5019\u7fa4\u306b\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u540c\u3058\u907a\u4f1d\u5b50\u304c\u8133\u306e\u767a\u9054\u3084\u795e\u7d4c\u306e\u50cd\u304d\u306b\u304a\u3044\u3066\u3001\u975e\u5e38\u306b\u57fa\u672c\u7684\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u308b\u305f\u3081\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3068\u3048\u3070\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MECP2\u907a\u4f1d\u5b50<\/strong>\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u5973\u5150\u306b\u304a\u3044\u3066\u306f\u300c\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\uff08Rett syndrome\uff09\u300d\u3092\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3067\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3059\u308b\u3068\u300cMECP2\u91cd\u8907\u75c7\u5019\u7fa4\uff08MECP2 duplication syndrome\uff09\u300d\u3068\u306a\u308a\u3001\u4e3b\u306b\u7537\u5150\u3067\u3088\u308a\u91cd\u7be4\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u304c\u3001\u5973\u5150\u3067\u306f\u7121\u75c7\u72b6\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>RAI1\u907a\u4f1d\u5b50<\/strong>\u306e\u6b20\u5931\u306f\u300c\u30b9\u30df\u30b9\u30fb\u30de\u30b8\u30a7\u30cb\u30b9\u75c7\u5019\u7fa4\uff08Smith-Magenis syndrome\uff09\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u9006\u306b\u540c\u3058\u907a\u4f1d\u5b50\u304c\u91cd\u8907\u3057\u305f\u5834\u5408\u306b\u306f\u300c\u30dd\u30c8\u30c3\u30ad\u30fb\u30eb\u30d7\u30b9\u30ad\u30fc\u75c7\u5019\u7fa4\uff08Potocki-Lupski syndrome\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u7570\u306a\u308b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>PMP22\u907a\u4f1d\u5b50<\/strong>\u306e\u91cd\u8907\u306f\u300c\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c5\uff08Charcot-Marie-Tooth disease\uff09\u300d\u3068\u95a2\u4fc2\u3057\u3066\u304a\u308a\u3001\u6b20\u5931\u304c\u3042\u308b\u5834\u5408\u306f\u300c\u907a\u4f1d\u6027\u611f\u899a\u904b\u52d5\u6027\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff08HNPP\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u5225\u306e\u795e\u7d4c\u75be\u60a3\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u305d\u306e\u307b\u304b\u3001<strong>UBE3A\u3001SETDB1\u3001ZBTB20<\/strong>\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3082\u3001\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4\u3001\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u75c7\u5019\u7fa4\u3001\u30d7\u30ea\u30e0\u30ed\u30fc\u30ba\u75c7\u5019\u7fa4\u306a\u3069\u306e\u75be\u60a3\u306b\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<div style=\"height:22px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306e\u300c\u30b3\u30d4\u30fc\u6570\u300d\u3084\u300c\u7570\u5e38\u306e\u7a2e\u985e\u300d\u306b\u3088\u3063\u3066\u3001\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3068\u3044\u3046\u70b9\u306f\u3001\u795e\u7d4c\u767a\u9054\u75c7\u306e\u8a3a\u65ad\u3084\u8aac\u660e\u306b\u304a\u3044\u3066\u975e\u5e38\u306b\u91cd\u8981\u306a\u8996\u70b9\u3067\u3059\u3002\u30b3\u30d4\u30fc\u6570\u304c\u6e1b\u5c11\u3057\u305f\u5834\u5408\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff1ahaploinsufficiency\uff09\u3068\u3001\u9006\u306b\u4f59\u5206\u306b\u5897\u52a0\u3057\u305f\u5834\u5408\uff08\u904e\u5270\u767a\u73fe\uff09\u3067\u306f\u3001\u75c7\u72b6\u304c\u6b63\u53cd\u5bfe\u306b\u306a\u308b\u3053\u3068\u3059\u3089\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u540c\u3058\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3059\u308b\u5834\u5408\u3067\u3042\u3063\u3066\u3082\u3001\u3069\u306e\u3088\u3046\u306a\u7570\u5e38\u304c\u3042\u308b\u306e\u304b\u3001\u3069\u306e\u3088\u3046\u306a\u5f71\u97ff\u304c\u8003\u3048\u3089\u308c\u308b\u306e\u304b\u3092\u614e\u91cd\u306b\u898b\u6975\u3081\u306a\u304c\u3089\u3001\u500b\u5225\u306b\u5bfe\u5fdc\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u6c42\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%A8%E4%BD%93%E7%9A%84%E3%81%AA%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91%E3%81%A8%E4%BB%8A%E5%BE%8C%E3%81%AE%E5%B1%95%E6%9C%9B%EF%BD%9CTarget_Topic_Context\"><\/span><strong>\u5168\u4f53\u7684\u306a\u4f4d\u7f6e\u3065\u3051\u3068\u4eca\u5f8c\u306e\u5c55\u671b\uff5cTarget Topic Context<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u75c7\u306e\u8a3a\u65ad\u306e\u8003\u3048\u65b9\u306f\u3001\u8fd1\u5e74\u5927\u304d\u304f\u5909\u308f\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002\u304b\u3064\u3066\u306f\u3001\u5916\u898b\u3084\u884c\u52d5\u3001\u6210\u9577\u306e\u69d8\u5b50\u3068\u3044\u3063\u305f\u300c\u75c7\u72b6\uff08\u30d5\u30a7\u30ce\u30bf\u30a4\u30d7\uff09\u300d\u3092\u3082\u3068\u306b\u691c\u67fb\u3092\u9078\u3076\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u4e3b\u6d41\u3067\u3057\u305f\u304c\u3001\u4eca\u3067\u306f\u3001\u907a\u4f1d\u5b50\u60c5\u5831\u3092\u8d77\u70b9\u3068\u3059\u308b\u300c\u30b2\u30ce\u30bf\u30a4\u30d7\u30fb\u30d5\u30a1\u30fc\u30b9\u30c8\u300d\u306e\u8a3a\u65ad\u6cd5\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u3088\u308a\u3001\u8a3a\u65ad\u306e\u6b63\u78ba\u6027\u304c\u5411\u4e0a\u3057\u3001\u3088\u308a\u9069\u5207\u306a\u533b\u7642\u3084\u652f\u63f4\u306b\u3064\u306a\u3052\u3084\u3059\u304f\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u767a\u9054\u75c7\u306f\u3001\u3082\u306f\u3084\u5358\u4e00\u306e\u75c5\u6c17\u3068\u3057\u3066\u3067\u306f\u306a\u304f\u3001\u907a\u4f1d\u7684\u306b\u3082\u75c7\u72b6\u7684\u306b\u3082\u91cd\u306a\u308a\u5408\u3046\u300c\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u9023\u7d9a\u4f53\uff09\u300d\u3068\u3057\u3066\u6349\u3048\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u8a3a\u65ad\u540d\u306b\u3068\u3089\u308f\u308c\u3059\u304e\u305a\u3001\u500b\u3005\u306e\u7279\u6027\u3084\u652f\u63f4\u306e\u30cb\u30fc\u30ba\u306b\u5408\u308f\u305b\u305f\u67d4\u8edf\u306a\u5bfe\u5fdc\u304c\u6c42\u3081\u3089\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3046\u3057\u305f\u5909\u5316\u3092\u652f\u3048\u3066\u3044\u308b\u306e\u304c\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\uff08NGS\uff09\u6280\u8853\u306e\u9032\u6b69\u3084\u3001\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\uff08\u751f\u7269\u60c5\u5831\u89e3\u6790\uff09\u3001\u304a\u3088\u3073\u5909\u7570\u89e3\u91c8\u306e\u305f\u3081\u306e\u81e8\u5e8a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306e\u6574\u5099\u3068\u3044\u3063\u305f\u5206\u91ce\u306e\u767a\u5c55\u3067\u3059\u3002\u3053\u308c\u3089\u306b\u3088\u308a\u3001\u3053\u308c\u307e\u3067\u8a3a\u65ad\u306b\u81f3\u3089\u306a\u304b\u3063\u305f\u30b1\u30fc\u30b9\u3067\u3082\u3001\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\u304c\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u308c\u3067\u3082\u3001\u73fe\u5728\u306e\u6280\u8853\u3092\u3082\u3063\u3066\u3057\u3066\u3082\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u75c7\u4f8b\u306f\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u591a\u304f\u306e\u7814\u7a76\u3067\u306f\u3001\u4f9d\u7136\u3068\u3057\u306650%\u4ee5\u4e0a\u306e\u60a3\u8005\u3055\u3093\u304c\u8a3a\u65ad\u672a\u78ba\u5b9a\u306e\u307e\u307e\u3067\u3042\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u300c\u8a3a\u65ad\u306e\u7a7a\u767d\u300d\u3092\u57cb\u3081\u3066\u3044\u304f\u305f\u3081\u306b\u306f\u3001\u4eca\u5f8c\u3055\u3089\u306b\u3001\u30b2\u30ce\u30e0\u60c5\u5831\u3060\u3051\u3067\u306a\u304f\u3001RNA\uff08\u30c8\u30e9\u30f3\u30b9\u30af\u30ea\u30d7\u30c8\u30fc\u30e0\uff09\u3084\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30af\u30b9\u306a\u3069\u3001\u8907\u6570\u306e\u5c64\u306e\u751f\u7269\u5b66\u7684\u30c7\u30fc\u30bf\u3092\u7d71\u5408\u3057\u3066\u89e3\u6790\u3059\u308b\u300c\u30de\u30eb\u30c1\u30aa\u30df\u30af\u30b9\u300d\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u306b\u306a\u3063\u3066\u304f\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81%E3%81%A8%E5%B0%8F%E3%81%95%E3%81%AA%E8%A6%8B%E8%A7%A3%EF%BD%9CCurrent_Conclusions\"><\/span><strong>\u307e\u3068\u3081\u3068\u5c0f\u3055\u306a\u898b\u89e3\uff5cCurrent Conclusions<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u539f\u56e0\u4e0d\u660e\u306e\u795e\u7d4c\u767a\u9054\u75c7\u306b\u5bfe\u3059\u308b\u6700\u3082\u52b9\u679c\u7684\u304b\u3064\u30a2\u30af\u30bb\u30b9\u3057\u3084\u3059\u3044\u521d\u671f\u8a3a\u65ad\u624b\u6bb5\u3068\u3057\u3066\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u304c\u7b2c\u4e00\u306b\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306b\u3088\u3063\u3066\u8a3a\u65ad\u304c\u3064\u304b\u306a\u304b\u3063\u305f\u5834\u5408\u3067\u3082\u3001\u5bb6\u65cf\u5358\u4f4d\u3067\u306e\u89e3\u6790\uff08\u30c8\u30ea\u30aa\u89e3\u6790\uff09\u3084\u3001\u69cb\u9020\u7684\u306a\u5909\u7570\u3082\u691c\u51fa\u3067\u304d\u308b\u88dc\u5b8c\u7684\u306a\u624b\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u591a\u304f\u306e\u60c5\u5831\u3092\u5f97\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u5c06\u6765\u7684\u306b\u306f\u3001\u8cbb\u7528\u306e\u4f4e\u4e0b\u3084\u89e3\u6790\u6280\u8853\u306e\u6d17\u7df4\u306b\u3088\u308a\u3001\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u7b2c\u4e00\u9078\u629e\u3068\u306a\u308b\u65e5\u3082\u8fd1\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u30ed\u30f3\u30b0\u30ea\u30fc\u30c9\u578b\u306e\u30b2\u30ce\u30e0\u89e3\u6790\u6280\u8853\u306f\u3001\u3053\u308c\u307e\u3067\u306e\u691c\u67fb\u65b9\u6cd5\u3067\u306f\u898b\u9003\u3055\u308c\u3066\u304d\u305f\u3088\u3046\u306a\u8907\u96d1\u306a\u5909\u7570\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u4e0a\u3067\u3001\u975e\u5e38\u306b\u5927\u304d\u306a\u4fa1\u5024\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3084\u77ed\u9396\u8aad\u307f\u53d6\u308a\u306e\u5168\u30b2\u30ce\u30e0\u89e3\u6790\u3067\u8a3a\u65ad\u304c\u3064\u304b\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u3001\u6b21\u306e\u4e00\u624b\u3068\u3057\u3066\u691c\u8a0e\u3059\u308b\u4fa1\u5024\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u30b2\u30ce\u30e0\u5168\u4f53\u3092\u5bfe\u8c61\u306b\u3057\u305f\u5909\u7570\u306e\u691c\u51fa\u3001\u305d\u308c\u3068\u81e8\u5e8a\u6240\u898b\u3068\u306e\u4e01\u5be7\u306a\u7167\u5408\u3001\u305d\u3057\u3066\u5b9a\u671f\u7684\u306a\u518d\u89e3\u6790\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u300c\u7cbe\u5bc6\u8a3a\u65ad\uff08precision diagnostics\uff09\u300d\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u3053\u305d\u304c\u3001\u795e\u7d4c\u767a\u9054\u75c7\u306e\u7406\u89e3\u3068\u6cbb\u7642\u3092\u524d\u9032\u3055\u305b\u308b\u30ab\u30ae\u3068\u306a\u3063\u3066\u3044\u304f\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41436-019-0554-6\">Srivastava, S., Love-Nichols, J.A., Dies, K.A. et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 21, 2413\u20132421 (2019). https:\/\/doi.org\/10.1038\/s41436-019-0554-6<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.xhgg.2021.100023\">Hiatt, Susan M., et al. \u2018Long-Read Genome Sequencing for the Molecular Diagnosis of Neurodevelopmental Disorders\u2019. Human Genetics and Genomics Advances, vol. 2, no. 2, Apr. 2021, p. 100023. DOI.org (Crossref), https:\/\/doi.org\/10.1016\/j.xhgg.2021.100023.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-023-33787-8\">Runheim, H., Pettersson, M., Hammarsj\u00f6, A. et al. The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders. Sci Rep 13, 6904 (2023). https:\/\/doi.org\/10.1038\/s41598-023-33787-8<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41431-022-01185-9\">van der Sanden, B.P.G.H., Schobers, G., Corominas Galbany, J. et al. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders. Eur J Hum Genet 31, 81\u201388 (2023). https:\/\/doi.org\/10.1038\/s41431-022-01185-9<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41467-020-18723-y\">Wang, T., Hoekzema, K., Vecchio, D. et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun 11, 4932 (2020). https:\/\/doi.org\/10.1038\/s41467-020-18723-y<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/epi.16755\">Stefanski, Arthur, et al. \u2018Clinical Sequencing Yield in Epilepsy, Autism Spectrum Disorder, and Intellectual Disability: A Systematic Review and Meta\u2010analysis\u2019. Epilepsia, vol. 62, no. 1, Jan. 2021, pp. 143\u201351. DOI.org (Crossref), https:\/\/doi.org\/10.1111\/epi.16755<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2021.526779\">Savatt, Juliann M., and Scott M. Myers. \u2018Genetic Testing in Neurodevelopmental Disorders\u2019. Frontiers in Pediatrics, vol. 9, Feb. 2021, p. 526779. DOI.org (Crossref), https:\/\/doi.org\/10.3389\/fped.2021.526779<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fnins.2021.776809\">Reichard, Julia, and Geraldine Zimmer-Bensch. \u2018The Epigenome in Neurodevelopmental Disorders\u2019. <em>Frontiers in Neuroscience<\/em>, vol. 15, Nov. 2021, p. 776809. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.3389\/fnins.2021.776809<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/cells10092317\">Yamamoto, Toshiyuki. \u2018Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders\u2019. Cells, vol. 10, no. 9, Sep. 2021, p. 2317. 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